In-depth insights into various childhood syndromes and disorders.
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This rare disease is a chromosomal condition, believed to have been diagnosed in more than 100 people to date. Some of its symptoms may be life threatening in infancy. Severe to profound intellectual disability is one of the most prominent symptoms of the syndrome. Syndrome Synonyms: Supernumerary Der(22)t(11;22) Syndrome
Also known as Ohtahara syndrome, this rare disease presents with infantile spasms. These spasms and seizures usually occur in the days following birth, and the syndrome is usually apparent in an affected individual before the first year of life. This syndrome is also known as: Epilepsy – infantile epileptic encephalopathy Epilepsy – limited to females, familial Epilepsy, Female-restricted, With Mental Retardation; Efmr Juberg-hellman Syndrome
Fabry syndrome occurs mainly in males, and is the result of mutations in the genes that produce the enzyme alpha-galactosidase A. The disease is considered a multi-system, progressive disorder and a lysosomal storage disease.
This rare disease is a genetic syndrome that affects multiple parts of the body. There are two types of the condition: Type 1 and Type 2, each with their own genetic cause. Type 1 is the more common form of the syndrome. Syndrome Synonyms: Brachydactyly With Short Stature And Microcephaly Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Feingold Syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Microcephaly-Oculo-Digital-Esophageal-Duodenal syndrome Microcephaly-oculo-digito-esophageal-duodenal Syndrome; Moded Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Mmt Syndrome MODED Oculo-digito-oesophageo-duodenal syndrome Oculodigitoesophagoduodenal Syndrome; Oded Oded Syndrome
Fetal Alcohol syndrome is caused when a fetus is exposed to alcohol during the pregnancy. It causes damage to both growth and brain development. Characteristics of the syndrome include distinct and unique facial features, a short stature, low weight at birth and continued low growth, as well as issues with coordination, learning and development. Syndrome Synonyms: Acetaldehyde Dehydrogenase 2 Alcohol Aldehyde Dehydrogenase 2 Aldh, Liver Mitochondrial FAS
This rare disease is a condition that can develop when an unborn baby is exposed to valproic acid or sodium valproate in the first trimester. Sodium valproate is used in a common medication for epilepsy, migraine and bipolar disorder. Not all babies exposed are born affected by the syndrome, but exposure increases the risk. Exposure to sodium valproate in utero increases the risk of an exposed fetus being born with congenital defects. These can include skull, facial and skeletal abnormalities. This syndrome is also known as: Fetal Valproate Syndrome; Fvs Valproate
This rare disease is a genetic syndrome. Since 1985 there have been less than 25 cases diagnosed worldwide, to date. The syndrome is characterized by its distinct facial features, intellectual disability, and webbing of the fingers and toes. Syndrome Synonyms: Scott Craniodigital Syndrome With Mental Retardation Syndactyly, Type I, With Microcephaly And Mental Retardation
Floating-Harbor syndrome is a genetic condition that presents with unique facial features and characteristics. Other main symptoms include proportionate short stature, delayed bone age and delayed speech development. It is named for the hospitals in California where it was first described.
Also known as Goltz syndrome, this rare genetic condition affects mainly females. 90% of those diagnosed with the syndrome are female. Males may have only very mild symptoms. Generally the syndrome in its full form is fatal for males very early in their development. As a multi-system disorder it affects multiple parts of the body in affected individuals. There have been around 200-300 cases reported worldwide to date. Syndrome Synonyms: FDH Focal dermal hypoplasia Fodh; Dhof Goltz Syndrome Goltz-gorlin Syndrome Gorlin-Goltz syndrome